OR5B12

Summary

OR5B12 (olfactory receptor family 5 subfamily B member 12, HGNC:15432) is a protein-coding gene on chromosome 11q12.1, encoding Olfactory receptor 5B12 (Q96R08). Odorant receptor.

Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome.

Source: NCBI Gene 390191 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 61 total
• MANE Select transcript: NM_001004733

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15432
Approved symbol	OR5B12
Name	olfactory receptor family 5 subfamily B member 12
Location	11q12.1
Locus type	gene with protein product
Status	Approved
Aliases	OST743
Ensembl gene	ENSG00000172362
Ensembl biotype	protein_coding
Entrez	390191

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000302572, ENST00000641921

RefSeq mRNA: 1 — MANE Select: NM_001004733 NM_001004733

CCDS: CCDS31551

Canonical transcript exons

ENST00000641921 — 2 exons

Exon	Start	End
ENSE00003813941	58438994	58440170
ENSE00003814129	58442046	58442236

Expression profiles

Bgee: expression breadth tissue_specific, 6 present calls, max score 84.41.

Top tissues by expression

108 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.41	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	53.17	gold quality
colonic epithelium	UBERON:0000397	41.66	gold quality
bone marrow cell	CL:0002092	39.63	silver quality
sural nerve	UBERON:0015488	39.01	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
lymph node	UBERON:0000029	34.87	silver quality
bone marrow	UBERON:0002371	33.52	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
gall bladder	UBERON:0002110	31.96	silver quality
monocyte	CL:0000576	31.93	gold quality
leukocyte	CL:0000738	31.54	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
tonsil	UBERON:0002372	30.63	gold quality
superior frontal gyrus	UBERON:0002661	30.39	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
liver	UBERON:0002107	29.81	gold quality
vermiform appendix	UBERON:0001154	29.77	silver quality
muscle of leg	UBERON:0001383	29.43	silver quality
urinary bladder	UBERON:0001255	29.18	gold quality
left ovary	UBERON:0002119	29.07	gold quality
gastrocnemius	UBERON:0001388	28.95	silver quality
blood	UBERON:0000178	28.92	gold quality
ovary	UBERON:0000992	28.57	gold quality
corpus callosum	UBERON:0002336	28.56	gold quality
duodenum	UBERON:0002114	28.14	gold quality
placenta	UBERON:0001987	27.84	gold quality
islet of Langerhans	UBERON:0000006	27.72	gold quality
right coronary artery	UBERON:0001625	27.67	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.12

Regulation

Is transcription factor: no

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or5b12b	ENSMUSG00000045126
mus_musculus	Or5b12	ENSMUSG00000048456
rattus_norvegicus	Or5b12b	ENSRNOG00000031648
rattus_norvegicus	Or5b12	ENSRNOG00000083221

Paralogs (96): OR5C1 (ENSG00000148215), OR5F1 (ENSG00000149133), OR8K1 (ENSG00000150261), OR5M9 (ENSG00000150269), OR14K1 (ENSG00000153230), OR8J3 (ENSG00000167822), OR5I1 (ENSG00000167825), OR5AU1 (ENSG00000169327), OR9K2 (ENSG00000170605), OR8B12 (ENSG00000170953), OR10H3 (ENSG00000171936), OR8I2 (ENSG00000172154), OR8U1 (ENSG00000172199), OR10V1 (ENSG00000172289), OR5A1 (ENSG00000172320), OR5A2 (ENSG00000172324), OR5B2 (ENSG00000172365), OR9I1 (ENSG00000172377), OR9G4 (ENSG00000172457), OR5AR1 (ENSG00000172459), OR5AP2 (ENSG00000172464), OR8J1 (ENSG00000172487), OR5B3 (ENSG00000172769), OR10W1 (ENSG00000172772), OR5M3 (ENSG00000174937), OR5J2 (ENSG00000174957), OR10H4 (ENSG00000176231), OR5AN1 (ENSG00000176495), OR14C36 (ENSG00000177174), OR6B3 (ENSG00000178586), OR10Q1 (ENSG00000180475), OR8G2P (ENSG00000181214), OR5AK2 (ENSG00000181273), OR5AK3P (ENSG00000181282), OR5M8 (ENSG00000181371), OR8D4 (ENSG00000181518), OR8H1 (ENSG00000181693), OR8K5 (ENSG00000181752), OR8H3 (ENSG00000181761), OR8H2 (ENSG00000181767)

Protein

Protein identifiers

Olfactory receptor 5B12 — Q96R08 (reviewed: Q96R08)

Alternative names: Olfactory receptor 5B16, Olfactory receptor OR11-241

All UniProt accessions (1): Q96R08

UniProt curated annotations — full annotation on UniProt →

Function. Odorant receptor.

Subcellular location. Cell membrane.

Similarity. Belongs to the G-protein coupled receptor 1 family.

RefSeq proteins (1): NP_001004733* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain

Pfam: PF13853

UniProt features (21 total): topological domain 8, transmembrane region 7, glycosylation site 2, sequence variant 2, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96R08-F1	89.47	0.67

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (1): 95–187

Glycosylation sites (2): 3, 261

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9752946	Expression and translocation of olfactory receptors

MSigDB gene sets: 19 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, MARTIN_VIRAL_GPCR_SIGNALING_DN, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, HAMAI_APOPTOSIS_VIA_TRAIL_DN, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, GOMF_ODORANT_BINDING, GOMF_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY, GOBP_SENSORY_PERCEPTION_OF_SMELL, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOBP_DETECTION_OF_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION

GO Biological Process (4): G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of smell (GO:0007608), signal transduction (GO:0007165), detection of chemical stimulus involved in sensory perception of smell (GO:0050911)

GO Molecular Function (3): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984), odorant binding (GO:0005549)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Olfactory Signaling Pathway	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transmembrane signaling receptor activity	2
G protein-coupled receptor activity	1
signal transduction	1
sensory perception of chemical stimulus	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
sensory perception of smell	1
detection of chemical stimulus involved in sensory perception	1
G protein-coupled receptor signaling pathway	1
detection of chemical stimulus involved in sensory perception of smell	1
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

62 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR5B12	GTF3C5	Q9Y5Q8	540
OR5B12	SLC26A7	Q8TE54	432
OR5B12	BLVRB	P30043	376
OR5B12	CTC1	Q2NKJ3	376
OR5B12	SLC7A7	Q9UM01	371
OR5B12	CFAP100	Q494V2	290
OR5B12	CBLN2	Q8IUK8	220
OR5B12	CLTRN	Q9HBJ8	202
OR5B12	FAM13A	O94988	189
OR5B12	NOTCH2	Q04721	179
OR5B12	FGL1	Q08830	175
OR5B12	CBLN1	P02682	174
OR5B12	PLAUR	Q03405	166
OR5B12	TNP2	Q05952	162
OR5B12	CHRNA3	P32297	151

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A096LPK9, A0A0X1KG70, A6NCV1, O95221, P0C7N1, P0C7N5, Q60881, Q60888, Q6IEU7, Q8NGA8, Q8NGB6, Q8NGC6, Q8NGD0, Q8NGD1, Q8NGD2, Q8NGD4, Q8NGD5, Q8NGE8, Q8NGF8, Q8NGI4, Q8NGI6, Q8NGJ1, Q8NGM9, Q8NGP8, Q8NGP9, Q8NGS9, Q8NGT0, Q8NH01, Q8NH10, Q8NH18, Q8NH21, Q8NH41, Q8NH42, Q8NH43, Q8NH49, Q8NH69, Q8NH85, Q8VEW5, Q8VF65, Q8VFD3

Diamond homologs: A0A3B3IT45, A4D2G3, A6NF89, A6NGY5, A6NL08, A6NL26, A6NMU1, A6NND4, O88628, P0C629, P0C646, P0C7N1, P0C7T3, P23266, P23273, P23274, P30954, Q13606, Q60888, Q62007, Q6IF63, Q6IFG1, Q6W049, Q8NGA6, Q8NGF0, Q8NGF1, Q8NGF3, Q8NGG8, Q8NGH5, Q8NGH6, Q8NGH7, Q8NGH8, Q8NGH9, Q8NGI0, Q8NGI1, Q8NGI2, Q8NGI3, Q8NGI7, Q8NGJ2, Q8NGJ3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

61 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	58
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

312 predictions. Top by Δscore:

Variant	Effect	Δscore
11:58439522:C:CT	acceptor_gain	0.6800
11:58439487:G:C	acceptor_gain	0.6400
11:58439148:T:TC	acceptor_gain	0.6300
11:58439148:T:C	acceptor_gain	0.6200
11:58439966:A:AC	donor_gain	0.6200
11:58439967:C:CC	donor_gain	0.6200
11:58439484:A:C	acceptor_gain	0.6100
11:58439496:A:C	acceptor_gain	0.6100
11:58439839:AGGCT:A	acceptor_gain	0.6100
11:58439982:A:C	donor_gain	0.6100
11:58439842:C:CC	acceptor_gain	0.6000
11:58439487:G:GC	acceptor_gain	0.5900
11:58439147:C:CC	acceptor_gain	0.5800
11:58439481:A:C	acceptor_gain	0.5800
11:58439573:A:AC	donor_gain	0.5700
11:58439574:C:CC	donor_gain	0.5700
11:58439841:GCT:G	acceptor_gain	0.5700
11:58439950:C:CT	donor_gain	0.5600
11:58439393:T:A	donor_gain	0.5400
11:58439523:A:T	acceptor_gain	0.5400
11:58439490:A:C	acceptor_gain	0.5300
11:58439840:GGCT:G	acceptor_gain	0.5300
11:58440041:C:CT	acceptor_gain	0.5300
11:58439142:TTGGG:T	acceptor_gain	0.5200
11:58439144:GGGCT:G	acceptor_loss	0.5200
11:58439146:GC:G	acceptor_loss	0.5200
11:58439147:C:CA	acceptor_loss	0.5200
11:58439148:T:A	acceptor_loss	0.5200
11:58439151:G:GC	acceptor_gain	0.5200
11:58439494:A:AC	acceptor_gain	0.5200

AlphaMissense

2083 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:58440122:G:C	F10L	0.923
11:58440122:G:T	F10L	0.923
11:58440124:A:G	F10L	0.923
11:58439627:A:C	F175L	0.845
11:58439627:A:T	F175L	0.845
11:58439629:A:G	F175L	0.845
11:58439654:G:C	F166L	0.843
11:58439654:G:T	F166L	0.843
11:58439656:A:G	F166L	0.843
11:58440123:A:G	F10S	0.821
11:58439624:G:C	F176L	0.812
11:58439624:G:T	F176L	0.812
11:58439626:A:G	F176L	0.812
11:58439666:G:C	F162L	0.798
11:58439666:G:T	F162L	0.798
11:58439668:A:G	F162L	0.798
11:58439622:C:G	C177S	0.746
11:58439623:A:T	C177S	0.746
11:58439623:A:G	C177R	0.739
11:58440065:G:C	F29L	0.721
11:58440065:G:T	F29L	0.721
11:58440067:A:G	F29L	0.721
11:58439405:A:C	F249L	0.710
11:58439405:A:T	F249L	0.710
11:58439407:A:G	F249L	0.710
11:58440123:A:C	F10C	0.710
11:58439285:G:C	S289R	0.705
11:58439285:G:T	S289R	0.705
11:58439287:T:G	S289R	0.705
11:58439607:A:T	L182H	0.695

dbSNP variants (sampled 300 via entrez): RS1000388672 (11:58441728 A>T), RS1000491598 (11:58441099 C>T), RS1000684318 (11:58442222 T>C), RS1000716538 (11:58442438 A>G), RS1000822935 (11:58441361 T>C), RS1001125599 (11:58440131 C>A,G,T), RS1001822618 (11:58441869 G>A,T), RS1002043392 (11:58441413 A>C,G), RS1002533729 (11:58438546 TA>T,TAA), RS1003718066 (11:58439779 A>C,G), RS1003817817 (11:58441038 T>C), RS1005008703 (11:58443549 C>A), RS1005267240 (11:58442466 G>A,T), RS1005343445 (11:58443906 T>C), RS1005752219 (11:58442235 C>T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST004133_47	Ulcerative colitis	9.000000e-06
GCST004279_9	Systolic blood pressure	2.000000e-07
GCST006020_11	Diastolic blood pressure	2.000000e-07
GCST006021_44	Systolic blood pressure	1.000000e-08
GCST006023_5	Hypertension	6.000000e-08
GCST006919_4	Ability to confide in someone	9.000000e-08
GCST006923_2	Loneliness	3.000000e-06
GCST006924_11	Loneliness (MTAG)	8.000000e-09
GCST007565_17	Morning person	1.000000e-13
GCST008170_2	Thyroglobulin plasma levels	8.000000e-07

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0006335	systolic blood pressure
EFO:0006336	diastolic blood pressure
EFO:0009592	social interaction measurement
EFO:0007865	loneliness measurement
EFO:0008328	chronotype measurement
EFO:0010050	thyroglobulin measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	increases methylation	1
Endosulfan	decreases expression	1
Rotenone	decreases expression	1
Valproic Acid	decreases methylation	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.